Incidental Mutation 'R1451:Or8b50'
ID 161673
Institutional Source Beutler Lab
Gene Symbol Or8b50
Ensembl Gene ENSMUSG00000047050
Gene Name olfactory receptor family 8 subfamily B member 50
Synonyms Olfr914, MOR165-7, GA_x6K02T2PVTD-32308823-32309773
MMRRC Submission 039506-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.053) question?
Stock # R1451 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 38517763-38518713 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 38518234 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 158 (I158F)
Ref Sequence ENSEMBL: ENSMUSP00000150241 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057755] [ENSMUST00000217057]
AlphaFold E9PW59
Predicted Effect probably benign
Transcript: ENSMUST00000057755
AA Change: I158F

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000053405
Gene: ENSMUSG00000047050
AA Change: I158F

DomainStartEndE-ValueType
Pfam:7tm_4 31 310 1.1e-48 PFAM
Pfam:7tm_1 41 290 5.2e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000217057
AA Change: I158F

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.8%
  • 10x: 94.4%
  • 20x: 86.3%
Validation Efficiency 96% (55/57)
MGI Phenotype FUNCTION: Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700024G13Rik T C 14: 32,098,588 (GRCm39) E83G possibly damaging Het
Abca9 A G 11: 110,018,273 (GRCm39) S1116P probably damaging Het
Abcc12 T A 8: 87,284,322 (GRCm39) T296S probably damaging Het
Adarb2 A G 13: 8,389,657 (GRCm39) probably benign Het
Arhgef12 C T 9: 42,903,874 (GRCm39) probably benign Het
Asah1 A G 8: 41,807,049 (GRCm39) probably null Het
C1ra A T 6: 124,498,600 (GRCm39) Q431L probably benign Het
C1s2 A T 6: 124,602,453 (GRCm39) I580N probably benign Het
Cacna2d4 C T 6: 119,213,785 (GRCm39) T68I probably benign Het
Car8 A T 4: 8,189,327 (GRCm39) H162Q probably benign Het
Ccdc106 A G 7: 5,062,527 (GRCm39) R116G probably damaging Het
Ccdc136 T A 6: 29,419,376 (GRCm39) N965K probably benign Het
Cd200r3 A G 16: 44,771,910 (GRCm39) E58G possibly damaging Het
Cnksr3 T A 10: 7,076,830 (GRCm39) S121C probably null Het
Cog6 T C 3: 52,916,534 (GRCm39) M212V possibly damaging Het
Ebna1bp2 C A 4: 118,478,269 (GRCm39) probably null Het
Epha1 C A 6: 42,338,385 (GRCm39) M730I probably damaging Het
Fcgbpl1 T C 7: 27,836,582 (GRCm39) F167S probably damaging Het
Fscn2 A T 11: 120,252,848 (GRCm39) E105V probably damaging Het
Gars1 T C 6: 55,030,108 (GRCm39) probably benign Het
Itgb4 G T 11: 115,881,710 (GRCm39) G753V probably damaging Het
Kif23 C T 9: 61,832,084 (GRCm39) V634M probably damaging Het
Krt8 T C 15: 101,907,264 (GRCm39) Y273C possibly damaging Het
Lgmn A G 12: 102,372,151 (GRCm39) probably benign Het
Lrig3 T C 10: 125,845,926 (GRCm39) I785T possibly damaging Het
Lrriq1 A G 10: 103,038,376 (GRCm39) probably benign Het
Lta4h A G 10: 93,316,590 (GRCm39) D491G probably damaging Het
Megf10 A T 18: 57,385,931 (GRCm39) S315C probably damaging Het
Mphosph8 C T 14: 56,905,878 (GRCm39) R24C possibly damaging Het
Neurog2 A G 3: 127,427,490 (GRCm39) D38G possibly damaging Het
Or1j11 G T 2: 36,311,877 (GRCm39) A156S probably benign Het
Or2w2 A T 13: 21,758,457 (GRCm39) Y56* probably null Het
Or2z2 C T 11: 58,346,358 (GRCm39) R139H probably benign Het
Or6b3 T A 1: 92,439,517 (GRCm39) I78F possibly damaging Het
Or8g50 T A 9: 39,648,612 (GRCm39) V167D probably benign Het
Pcdhb17 A T 18: 37,619,989 (GRCm39) D593V probably damaging Het
Pde2a G T 7: 101,071,198 (GRCm39) E23* probably null Het
Prex2 G A 1: 11,226,483 (GRCm39) V749I probably benign Het
Ptchd4 A G 17: 42,813,809 (GRCm39) Y570C probably damaging Het
Robo3 C T 9: 37,329,007 (GRCm39) R1237K probably benign Het
Slc6a1 C A 6: 114,284,756 (GRCm39) Y87* probably null Het
Snx13 G A 12: 35,128,983 (GRCm39) A34T probably benign Het
Sppl3 T C 5: 115,226,424 (GRCm39) L193P probably damaging Het
Tia1 A T 6: 86,407,321 (GRCm39) Y277F probably benign Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Trappc2l T C 8: 123,342,134 (GRCm39) F127L probably damaging Het
Ushbp1 G T 8: 71,838,663 (GRCm39) Q588K possibly damaging Het
Usp43 T A 11: 67,747,007 (GRCm39) H895L probably benign Het
Vmn1r179 T A 7: 23,628,275 (GRCm39) C155* probably null Het
Vmn2r8 T A 5: 108,945,933 (GRCm39) D558V probably damaging Het
Vps13a T C 19: 16,688,228 (GRCm39) T860A probably benign Het
Vps50 A G 6: 3,565,628 (GRCm39) N522S possibly damaging Het
Zfp180 T C 7: 23,804,643 (GRCm39) F354S probably benign Het
Zgpat A G 2: 181,021,984 (GRCm39) probably benign Het
Other mutations in Or8b50
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01613:Or8b50 APN 9 38,517,850 (GRCm39) missense probably null 0.00
IGL01758:Or8b50 APN 9 38,518,589 (GRCm39) missense probably damaging 0.99
IGL02003:Or8b50 APN 9 38,518,136 (GRCm39) missense probably damaging 1.00
IGL02203:Or8b50 APN 9 38,518,719 (GRCm39) utr 3 prime probably benign
IGL02233:Or8b50 APN 9 38,518,538 (GRCm39) missense probably damaging 1.00
IGL02408:Or8b50 APN 9 38,518,417 (GRCm39) missense possibly damaging 0.62
IGL02882:Or8b50 APN 9 38,518,234 (GRCm39) missense probably benign 0.04
IGL03081:Or8b50 APN 9 38,518,166 (GRCm39) missense probably benign 0.01
IGL03088:Or8b50 APN 9 38,518,597 (GRCm39) missense probably damaging 0.99
IGL03177:Or8b50 APN 9 38,517,867 (GRCm39) nonsense probably null
IGL03219:Or8b50 APN 9 38,518,247 (GRCm39) missense probably benign 0.28
P0023:Or8b50 UTSW 9 38,517,941 (GRCm39) missense probably damaging 1.00
R0630:Or8b50 UTSW 9 38,518,192 (GRCm39) missense probably benign 0.01
R0948:Or8b50 UTSW 9 38,517,787 (GRCm39) missense possibly damaging 0.65
R1681:Or8b50 UTSW 9 38,518,244 (GRCm39) missense probably damaging 0.99
R2402:Or8b50 UTSW 9 38,518,397 (GRCm39) missense probably benign 0.02
R5854:Or8b50 UTSW 9 38,517,959 (GRCm39) missense probably damaging 1.00
R6857:Or8b50 UTSW 9 38,518,307 (GRCm39) missense probably benign 0.07
R7452:Or8b50 UTSW 9 38,518,384 (GRCm39) missense probably benign 0.34
R7838:Or8b50 UTSW 9 38,517,708 (GRCm39) start gained probably benign
R8039:Or8b50 UTSW 9 38,518,685 (GRCm39) missense probably benign
R8489:Or8b50 UTSW 9 38,518,232 (GRCm39) missense probably benign 0.07
R8768:Or8b50 UTSW 9 38,518,441 (GRCm39) missense probably benign 0.01
R9373:Or8b50 UTSW 9 38,518,142 (GRCm39) missense possibly damaging 0.91
R9380:Or8b50 UTSW 9 38,518,415 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- GCTTAACAGACCAGCCTGACCTTC -3'
(R):5'- GCAATTATGTGGGAACTGCAAGTGC -3'

Sequencing Primer
(F):5'- TACATGGGGTGCATGACTCAG -3'
(R):5'- CTTTGGACCTGCCTGAAGTG -3'
Posted On 2014-03-14